Details for Combination OLI1788

VARIANTS NOD2:c.2372G>A, p.Arg791Gln in Heterozygous form; MEFV:c.1772T>C, p.Ile591Thr in Heterozygous form; NLRP3:c.592G>A, p.Val200Met in Heterozygous form; TNFRSF1A:c.362G>A, p.Arg121Gln in Heterozygous form
GENE COMBINATION MEFV; NLRP3; NOD2; TNFRSF1A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Autoinflammatory syndrome
REFERENCES 37928541
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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